| Primary Identifier | MGI:88462 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 12836 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Predicted to be involved in extracellular matrix organization. Located in basement membrane. Is expressed in several structures, including basement membrane; glomerular basement membrane of mature renal corpuscle; palatal shelf; pigmented retinal epithelium; and skin. Used to study recessive dystrophic epidermolysis bullosa. Human ortholog(s) of this gene implicated in epidermolysis bullosa dystrophica (multiple) and nonsyndromic congenital nail disorder 8. Orthologous to human COL7A1 (collagen type VII alpha 1 chain). PHENOTYPE: Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
